ClinVar for MedGen (Select 1368658) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3 (R589P)	Single nucleotide variant (missense variant)	Phimosis +8 more	GUncertain significance
Select item 1299474	NM_001284401.2(TAMM41):c.806dup (p.Asn269fs)	TAMM41 (N103fs +2 more)	Duplication (frameshift variant +1 more)	Combined oxidative phosphorylation deficiency 56 +4 more	GPathogenic
Select item 1299473	NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys)	TAMM41 (Y110C +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 56 +4 more	GPathogenic
Select item 807299	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	AP3B2, CPEB1-AS1 (K262T +1 more)	Single nucleotide variant (missense variant)	Autism +11 more	GUncertain significance
Select item 598975	NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)	SYNE2 (G6542W +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more	GUncertain significance
Select item 598974	NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)	RYR1 (R3366L)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +12 more	GConflicting classifications of pathogenicity
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +14 more	GConflicting classifications of pathogenicity
Select item 523529	NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	CHAT (S576C +2 more)	Single nucleotide variant (missense variant)	Gastroesophageal reflux +11 more	GPathogenic
Select item 523528	NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	CHAT (T236M +2 more)	Single nucleotide variant (missense variant)	Aspiration pneumonia +11 more	GPathogenic/Likely pathogenic
Select item 523412	NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)	ZNF469 (G3178S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +8 more	GUncertain significance
Select item 523411	NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)	ZNF469 (N857D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Inguinal hernia +12 more	GLikely pathogenic
Select item 374121	NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	RPS6KA3 (A178G)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +13 more	GLikely pathogenic
Select item 320853	NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)	ZNF469 (G157E)	Single nucleotide variant (missense variant)	Joint hypermobility +9 more	GUncertain significance
Select item 267940	45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn		Translocation	Clinodactyly +6 more	GPathogenic
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267884	46;XY;t(3;5)(q23;q13)dn		Translocation	Tracheomalacia +3 more	GLikely pathogenic
Select item 267798	46;XY;t(9;16)(p24;q22)dn		Translocation	Alveolar capillary dysplasia with pulmonary venous misalignment +5 more	GPathogenic
Select item 183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	FAM120AOS (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperactive airways +8 more	GLikely pathogenic
Select item 88694	NM_013335.4(GMPPA):c.210del (p.Ala71fs)	ASIC4-AS1, GMPPA (A71fs)	Deletion (frameshift variant)	Global developmental delay +2 more	GPathogenic
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +4 more	GUncertain significance

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Items: 22